Associated Papers
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Germline variants of ATG7 in familial cholangiocarcinoma alter autophagy and p62.
Greer SU et al.
Scientific Reports, 2022
35725745 (PubMed )
Supplement: 41598_2022_13569_MOESM1_ESM.xlsx › Table_S11
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
Bem RS et al.
Arquivos De Neuro-psiquiatria, 2013
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
Loudianos G et al.
Human Genetics, 1996
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
Figus A et al.
American Journal of Human Genetics, 1995
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